Disease Clusters?

Groups of diseases that share a large number of curated genes with each other, computed via label propagation over the shared-gene similarity graph. See also Shared-Gene Disease Pairs for pairwise comparisons.

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Cluster 12

27 diseases · 60 shared-gene connections
27 Diseases
290 Unique genes
0.153 Avg. similarity score
Spinocerebellar ataxia Most-connected disease (12 links)
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Disease Searched: Autosomal recessive spinocerebellar ataxia 16 Pinned (dragged)
Node size = connections within this cluster · edge thickness = similarity strength · hover an edge for its details · click a node to select it and show its pairs below (double-click or Ctrl/⌘-click opens the disease page) · drag a node to pin it in place · scroll/pinch to zoom.

Member diseases (most connected first ‐ the cluster's core)

Disease ⇵ Connections in cluster ⇵ Significant partners ⇵ Curated genes ⇵
Spinocerebellar ataxia 12 12 105
Cleft palate and bilateral cleft lip 11 11 14
Melas syndrome 11 11 19
Neuropathy, ataxia, and retinitis pigmentosa 11 11 13
Cerebellar ataxia 10 10 121
Postaxial polydactyly 7 7 23
Leber hereditary optic neuropathy 6 6 28
Optic neuropathy 6 6 12
Congenital cardiomyopathy 5 5 2
Leber optic atrophy and dystonia 5 5 1
Mitochondrial encephalomyopathy with lactic acidosis and stroke-like episodes syndrome 5 5 4
ROD-CONE DYSTROPHY 5 5 36
Periodic paralysis with later-onset distal motor neuropathy 4 4 1
Spastic ataxia 3 3 70
Autosomal recessive spinocerebellar ataxia 16 2 2 1
Myoclonic epilepsy with ragged red fibers 2 2 4
Neurodevelopmental disorder with motor abnormalities, seizures, and facial dysmorphism 2 2 1
Spinocerebellar ataxia, autosomal recessive 28 2 2 1
Spinocerebellar ataxia, autosomal recessive 30 2 2 1
Spinocerebellar ataxia, autosomal recessive, 11 2 2 1
Cayman type cerebellar ataxia 1 1 1
Neurodevelopmental disorder with microcephaly and brain abnormalities 1 1 1
Spinocerebellar ataxia and intellectual disability 1 1 1
Spinocerebellar ataxia type 13 1 1 1
Spinocerebellar ataxia, autosomal recessive 27 1 1 1
Spinocerebellar ataxia, autosomal recessive, 22 1 1 1
Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 3 1 1 1

Top shared genes (genes linked to 2+ member diseases)

Gene ⇵ Member diseases ⇵ Linked diseases
ND4 10 / 27 Cerebellar ataxia, Cleft palate and bilateral cleft lip, Congenital cardiomyopathy, Leber hereditary optic neuropathy and 6 more
ND5 10 / 27 Cerebellar ataxia, Cleft palate and bilateral cleft lip, Congenital cardiomyopathy, Leber hereditary optic neuropathy and 6 more
ATP8 9 / 27 Cerebellar ataxia, Cleft palate and bilateral cleft lip, Leber hereditary optic neuropathy, Melas syndrome and 5 more
ND1 9 / 27 Cerebellar ataxia, Cleft palate and bilateral cleft lip, Leber hereditary optic neuropathy, Melas syndrome and 5 more
ATP6 8 / 27 Cerebellar ataxia, Cleft palate and bilateral cleft lip, Leber hereditary optic neuropathy, Melas syndrome and 4 more
COX3 8 / 27 Cerebellar ataxia, Cleft palate and bilateral cleft lip, Leber hereditary optic neuropathy, Melas syndrome and 4 more
ND3 8 / 27 Cerebellar ataxia, Cleft palate and bilateral cleft lip, Leber hereditary optic neuropathy, Leber optic atrophy and dystonia and 4 more
COX1 7 / 27 Cerebellar ataxia, Cleft palate and bilateral cleft lip, Leber hereditary optic neuropathy, Melas syndrome and 3 more
COX2 7 / 27 Cerebellar ataxia, Cleft palate and bilateral cleft lip, Leber hereditary optic neuropathy, Melas syndrome and 3 more
ND2 7 / 27 Cerebellar ataxia, Cleft palate and bilateral cleft lip, Leber hereditary optic neuropathy, Melas syndrome and 3 more
ND4L 6 / 27 Cerebellar ataxia, Cleft palate and bilateral cleft lip, Leber hereditary optic neuropathy, Neuropathy, ataxia, and retinitis pigmentosa and 2 more
AFG3L2 3 / 27 Cerebellar ataxia, Spastic ataxia, Spinocerebellar ataxia
CACNA1A 3 / 27 Cerebellar ataxia, Spastic ataxia, Spinocerebellar ataxia
CACNA1G 3 / 27 Cerebellar ataxia, Spastic ataxia, Spinocerebellar ataxia
IL1A 3 / 27 Leber hereditary optic neuropathy, Melas syndrome, Myoclonic epilepsy with ragged red fibers
IL1B 3 / 27 Leber hereditary optic neuropathy, Melas syndrome, Myoclonic epilepsy with ragged red fibers
ITPR1 3 / 27 Cerebellar ataxia, Spastic ataxia, Spinocerebellar ataxia
ND6 3 / 27 Leber hereditary optic neuropathy, Melas syndrome, Mitochondrial encephalomyopathy with lactic acidosis and stroke-like episodes syndrome
PITRM1 3 / 27 Cerebellar ataxia, Spinocerebellar ataxia, Spinocerebellar ataxia, autosomal recessive 30
PNPLA6 3 / 27 Cerebellar ataxia, ROD-CONE DYSTROPHY, Spastic ataxia
POLG 3 / 27 Cerebellar ataxia, Melas syndrome, Spinocerebellar ataxia
PUM1 3 / 27 Neurodevelopmental disorder with motor abnormalities, seizures, and facial dysmorphism, Spastic ataxia, Spinocerebellar ataxia
SETX 3 / 27 Cerebellar ataxia, Spastic ataxia, Spinocerebellar ataxia
STUB1 3 / 27 Autosomal recessive spinocerebellar ataxia 16, Cerebellar ataxia, Spinocerebellar ataxia
SYNE1 3 / 27 Cerebellar ataxia, Spastic ataxia, Spinocerebellar ataxia
SYT14 3 / 27 Cerebellar ataxia, Spinocerebellar ataxia, Spinocerebellar ataxia, autosomal recessive, 11
TDP1 3 / 27 Cerebellar ataxia, Neuropathy, ataxia, and retinitis pigmentosa, Spinocerebellar ataxia
THG1L 3 / 27 Cerebellar ataxia, Spinocerebellar ataxia, Spinocerebellar ataxia, autosomal recessive 28
ANO10 2 / 27 Cerebellar ataxia, Spinocerebellar ataxia
ATCAY 2 / 27 Cayman type cerebellar ataxia, Cerebellar ataxia
BBIP1 2 / 27 Postaxial polydactyly, ROD-CONE DYSTROPHY
CA8 2 / 27 Cerebellar ataxia, Spinocerebellar ataxia
CCDC88C 2 / 27 Spastic ataxia, Spinocerebellar ataxia
CEP290 2 / 27 ROD-CONE DYSTROPHY, Spastic ataxia
COA7 2 / 27 Spinocerebellar ataxia, Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 3
COQ4 2 / 27 Cerebellar ataxia, Spastic ataxia
COQ8A 2 / 27 Cerebellar ataxia, Spinocerebellar ataxia
CWF19L1 2 / 27 Cerebellar ataxia, Spinocerebellar ataxia
CYTB 2 / 27 Leber hereditary optic neuropathy, Melas syndrome
DAB1 2 / 27 Spastic ataxia, Spinocerebellar ataxia
DAGLA 2 / 27 Cerebellar ataxia, Spinocerebellar ataxia
DNMT1 2 / 27 Cerebellar ataxia, Spastic ataxia
ELOVL4 2 / 27 Spastic ataxia, Spinocerebellar ataxia
ERCC4 2 / 27 Cerebellar ataxia, Spastic ataxia
ESR1 2 / 27 Cerebellar ataxia, Spinocerebellar ataxia
FAT2 2 / 27 Cerebellar ataxia, Spinocerebellar ataxia
FGF14 2 / 27 Cerebellar ataxia, Spinocerebellar ataxia
FLNC 2 / 27 Cerebellar ataxia, Spastic ataxia
GDAP2 2 / 27 Spinocerebellar ataxia, Spinocerebellar ataxia, autosomal recessive 27
GRM1 2 / 27 Cerebellar ataxia, Spinocerebellar ataxia
HARS1 2 / 27 Cerebellar ataxia, Spastic ataxia
JMJD8 2 / 27 Cerebellar ataxia, Spinocerebellar ataxia
KCNC3 2 / 27 Spinocerebellar ataxia, Spinocerebellar ataxia type 13
KIF1C 2 / 27 Cerebellar ataxia, Spastic ataxia
KIF7 2 / 27 Cerebellar ataxia, Postaxial polydactyly
LRAT 2 / 27 Leber hereditary optic neuropathy, ROD-CONE DYSTROPHY
LYST 2 / 27 Optic neuropathy, Spastic ataxia
MTCL1 2 / 27 Cerebellar ataxia, Spinocerebellar ataxia
NOP56 2 / 27 Cerebellar ataxia, Spinocerebellar ataxia
NPTX1 2 / 27 Cerebellar ataxia, Spinocerebellar ataxia
NRDC 2 / 27 Neurodevelopmental disorder with microcephaly and brain abnormalities, Optic neuropathy
PDYN 2 / 27 Cerebellar ataxia, Spinocerebellar ataxia
PEX6 2 / 27 Cerebellar ataxia, Spinocerebellar ataxia
PIGL 2 / 27 Cleft palate and bilateral cleft lip, Postaxial polydactyly
PIK3R5 2 / 27 Spastic ataxia, Spinocerebellar ataxia
PLA2G6 2 / 27 Cerebellar ataxia, Spastic ataxia
PMPCA 2 / 27 Cerebellar ataxia, Spinocerebellar ataxia
POLR3A 2 / 27 Cerebellar ataxia, Spastic ataxia
PRDX3 2 / 27 Cerebellar ataxia, Spinocerebellar ataxia
PRKCG 2 / 27 Cerebellar ataxia, Spinocerebellar ataxia
RHBDL1 2 / 27 Cerebellar ataxia, Spinocerebellar ataxia
RP1 2 / 27 Leber hereditary optic neuropathy, ROD-CONE DYSTROPHY
RPE65 2 / 27 Leber hereditary optic neuropathy, ROD-CONE DYSTROPHY
RUBCN 2 / 27 Cerebellar ataxia, Spinocerebellar ataxia
SCN8A 2 / 27 Cerebellar ataxia, Spastic ataxia
SEPSECS 2 / 27 Cerebellar ataxia, Spastic ataxia
SLC25A46 2 / 27 Cerebellar ataxia, Spastic ataxia
SLC36A1 2 / 27 Cerebellar ataxia, Spinocerebellar ataxia
SNX14 2 / 27 Cerebellar ataxia, Spinocerebellar ataxia
SOD2 2 / 27 Leber hereditary optic neuropathy, Melas syndrome
SPTBN2 2 / 27 Cerebellar ataxia, Spinocerebellar ataxia
STXBP1 2 / 27 Cerebellar ataxia, Spastic ataxia
TDP2 2 / 27 Cerebellar ataxia, Spinocerebellar ataxia
TMEM240 2 / 27 Spinocerebellar ataxia, Spinocerebellar ataxia and intellectual disability
TTBK2 2 / 27 Cerebellar ataxia, Spinocerebellar ataxia
TUBB6 2 / 27 Spastic ataxia, Spinocerebellar ataxia
VPS13D 2 / 27 Cerebellar ataxia, Spinocerebellar ataxia
VPS41 2 / 27 Cerebellar ataxia, Spinocerebellar ataxia
VWA3B 2 / 27 Spinocerebellar ataxia, Spinocerebellar ataxia, autosomal recessive, 22
WDR24 2 / 27 Cerebellar ataxia, Spinocerebellar ataxia
WWOX 2 / 27 Cerebellar ataxia, Spinocerebellar ataxia
What do these columns mean?
Connections in cluster
How many other members this disease has a shared-gene link to (the node size in the network above). The most-connected diseases are the cluster's core.
Significant partners
How many of those links are statistically significant (FDR q < 0.05).
Curated genes
Distinct curated genes linked to that disease in GeDiPNet.
Member diseases (Top shared genes)
How many of this cluster's diseases are linked to the gene, out of the cluster's total. Genes shared by many members are the most direct explanation of why they group together.
Overlap genes (x / y)
x = genes shared between this cluster and the pathway/GO term; y = that pathway/GO term's total gene count. A higher x relative to y (and to the cluster's own size) means a tighter biological match.
Cluster gene count
Total distinct genes across every disease in this cluster -- the "n" used in the significance test below.
Fold enrichment
Observed overlap divided by the overlap expected by chance, given the cluster's gene count, the pathway/term's size and the gene universe tested. 5× means five times more shared genes than random. Tells strong hits apart when q-values are all vanishingly small.
P-value / FDR q-value
Is this pathway/GO term's overlap with the cluster more than chance? Upper-tail hypergeometric test, Benjamini-Hochberg corrected across every tested pathway/term (prefer the q-value -- it accounts for testing many at once).
Shared genes (Pairs within this cluster)
Number of curated genes the two diseases in that row have in common.
Similarity score (Pairs within this cluster)
Jaccard-based gene overlap between the two specific diseases in that row -- same metric as the main Shared-Gene Disease Pairs page.

Enriched Pathways (why this cluster is grouped, biologically)

Pathway ⇵ Source ⇵ Overlap genes ⇵ Fold enrichment ⇵ P-value ⇵ FDR q-value ⇵
Spinocerebellar ataxia
AFG3L2, ATXN1, ATXN1L, ATXN2, CACNA1A, FGF14, GRM1, NOP56, PRKCG, SPTBN2, TRPC3, ITPR1
 KEGG 24 / 144 6.9× 5.95e-14 1.46e-11 ✓ sig.
Pathways of neurodegeneration - multiple diseases
ATXN1, ATXN1L, ATXN2, GRM1, LRRK2, PRKCG, SPTBN2, TRPC3, ITPR1, PDYN, COX3, ATP6
 KEGG 40 / 480 3.5× 5.45e-12 8.80e-10 ✓ sig.
Parkinson disease
LRRK2, ITPR1, COX3, ATP6, ATP8, COX1, COX2, MFN2, ND1, ND2, ND3, ND4
 KEGG 27 / 268 4.2× 3.08e-10 3.22e-8 ✓ sig.
Prion disease
ITPR1, COX3, ATP6, ATP8, COX1, COX2, ND1, ND2, ND3, ND4, ND4L, ND5
 KEGG 27 / 275 4.1× 5.51e-10 5.46e-8 ✓ sig.
Oxidative phosphorylation
COX3, ATP6, ATP6V0A1, ATP8, COX1, COX2, ND1, ND2, ND3, ND4, ND4L, ND5
 KEGG 19 / 137 5.7× 7.07e-10 6.79e-8 ✓ sig.
Respiratory electron transport
COX3, COX1, COX2, ND1, ND2, ND3, ND4, ND5, SURF1, NDUFS2, ND6, CYTB
 Reactome 15 / 83 7.5× 1.07e-9 9.92e-8 ✓ sig.
Huntington disease
EP300, ITPR1, COX3, ATP6, ATP8, COX1, COX2, KCNJ10, ND1, ND2, ND3, ND4
 KEGG 28 / 308 3.8× 1.52e-9 1.36e-7 ✓ sig.
Chemical carcinogenesis - reactive oxygen species
COX3, ATP6, ATP8, COX1, COX2, ND1, ND2, ND3, ND4, ND4L, ND5, NDUFS2
 KEGG 23 / 227 4.2× 6.05e-9 4.72e-7 ✓ sig.
Diabetic cardiomyopathy
PRKCG, COX3, ATP6, ATP8, COX1, COX2, ND1, ND2, ND3, ND4, ND4L, ND5
 KEGG 21 / 205 4.2× 2.34e-8 1.57e-6 ✓ sig.
Complex I biogenesis
ND1, ND2, ND3, ND4, ND5, NDUFS2, ND6, NDUFAF5, NDUFS1, NDUFA1, NDUFA10
 Reactome 11 / 55 8.3× 6.27e-8 3.72e-6 ✓ sig.
Hedgehog 'off' state
KIF7, RPGRIP1L, GLI1, GLI3, IFT122, IFT88, MKS1, TUBB3, TUBA4A, TUBB6, SMO
 Reactome 11 / 56 8.1× 7.63e-8 4.41e-6 ✓ sig.
Amyotrophic lateral sclerosis
ATXN2, COX3, ATP6, ATP8, COX1, COX2, ND1, ND2, ND3, ND4, ND4L, ND5
 KEGG 27 / 368 3.0× 2.69e-7 1.33e-5 ✓ sig.
Retrograde endocannabinoid signaling
CACNA1A, GRM1, PRKCG, DAGLA, ITPR1, ND1, ND2, ND3, ND4, ND4L, ND5, NDUFS2
 KEGG 16 / 149 4.4× 6.02e-7 2.68e-5 ✓ sig.
Alzheimer disease
MME, ITPR1, COX3, ATP6, ATP8, COX1, COX2, CSNK1E, ND1, ND2, ND3, ND4
 KEGG 27 / 388 2.9× 7.66e-7 3.30e-5 ✓ sig.
Thermogenesis
COX3, ATP6, ATP8, COX1, COX2, ND1, ND2, ND3, ND4, ND4L, ND5, NDUFS2
 KEGG 20 / 234 3.5× 9.74e-7 4.07e-5 ✓ sig.

Enriched GO Terms (Biological Process, a second line of biological evidence)

GO term ⇵ GO ID ⇵ Overlap genes ⇵ Fold enrichment ⇵ P-value ⇵ FDR q-value ⇵
proton motive force-driven mitochondrial ATP synthesis
ATP6, ATP8, ND1, ND2, ND3, ND4, ND4L, ND5, NDUFS2, ND6, NDUFS1, ATP5F1B
 GO:0042776 14 / 64 14.1× 8.21e-13 3.91e-10 ✓ sig.
aerobic respiration
COX1, MFN2, ND1, ND2, ND3, ND4, ND4L, ND5, SURF1, NDUFS2, ND6, NDUFS1
 GO:0009060 14 / 68 13.3× 2.00e-12 8.99e-10 ✓ sig.
proton transmembrane transport
COX3, ATP6, ATP6V0A1, ATP8, COX1, COX2, ND1, ND2, ND3, ND4L, SLC36A1, SURF1
 GO:1902600 19 / 181 6.8× 5.97e-11 1.93e-8 ✓ sig.
mitochondrial electron transport, NADH to ubiquinone
ND1, ND2, ND3, ND4, ND4L, ND5, NDUFS2, ND6, NDUFS1, NDUFA1, NDUFA10
 GO:0006120 11 / 47 15.1× 1.10e-10 3.34e-8 ✓ sig.
visual perception
ATXN7, OPA1, KCNJ10, LRAT, RDH12, RP1, RPE65, RPGRIP1, BEST1, EYS, PDE6B, RHO
 GO:0007601 18 / 215 5.4× 7.50e-9 1.37e-6 ✓ sig.
ATP synthesis coupled electron transport
COX2, ND4, ND4L, ND5, NDUFS1
 GO:0042773 5 / 7 46.0× 1.78e-8 2.91e-6 ✓ sig.
mitochondrial respiratory chain complex I assembly
ND1, ND2, ND4, ND5, NDUFS2, ND6, NDUFAF5, NDUFS1
 GO:0032981 8 / 40 12.9× 1.53e-7 1.82e-5 ✓ sig.
response to copper ion
COX1, CYTB, IL1A, SOD1, ATP7B
 GO:0046688 5 / 12 26.8× 6.30e-7 5.90e-5 ✓ sig.
mitochondrion organization
AFG3L2, LRRK2, VPS13D, OPA1, PRDX3, MFN2, WDR81, SOD2, NOS3, SLC25A46, SPG7, PNPT1
 GO:0007005 12 / 130 5.9× 8.79e-7 7.70e-5 ✓ sig.
cilium assembly
TTBK2, RPGRIP1L, CIBAR1, AHI1, BBIP1, CEP290, CFAP20, IFT122, IFT88, INPP5E, KIAA0586, MKS1
 GO:0060271 16 / 237 4.4× 9.77e-7 8.44e-5 ✓ sig.
non-motile cilium assembly
KCNJ10, RPGRIP1L, RPGRIP1, CEP290, IFT122, IFT88, MKS1, BBS10
 GO:1905515 8 / 57 9.0× 2.61e-6 1.88e-4 ✓ sig.
response to oxidative stress
LRRK2, PRDX3, ATM, COX1, ND3, SOD1, SOD2, TP53, RRM2B, HMOX1, NQO1, THG1L
 GO:0006979 12 / 146 5.3× 3.01e-6 2.10e-4 ✓ sig.
monoatomic ion transmembrane transport
ANO10, CACNA1A, CACNA1G, GRID2, TRPC3, ITPR1, CLCN2, KCNA6, KCNJ10, KCNN2, SCN8A, BEST1
 GO:0034220 20 / 404 3.2× 5.56e-6 3.45e-4 ✓ sig.
respiratory chain complex IV assembly
COX3, SURF1, SLC25A46, COA7
 GO:0008535 4 / 9 28.6× 6.73e-6 4.00e-4 ✓ sig.
retina development in camera-type eye
CLCN2, RP1, RPGRIP1, PDE6B, RHO, SCAPER, NAGLU, BBS10, GNAT1
 GO:0060041 9 / 85 6.8× 6.77e-6 4.01e-4 ✓ sig.

Pairs within this cluster, by significance

Disease A ⇵ Disease B ⇵ Similarity score ⇵ Shared genes ⇵ P-value ⇵ FDR q-value ⇵
Cerebellar ataxia Spinocerebellar ataxia 0.220 41 3.56e-61 1.08e-59 ✓ sig.
Leber hereditary optic neuropathy Melas syndrome 0.469 15 1.25e-40 2.96e-39 ✓ sig.
Cleft palate and bilateral cleft lip Neuropathy, ataxia, and retinitis pigmentosa 0.647 11 9.24e-35 2.00e-33 ✓ sig.
Cleft palate and bilateral cleft lip Postaxial polydactyly 0.462 12 3.10e-34 6.64e-33 ✓ sig.
Leber hereditary optic neuropathy ROD-CONE DYSTROPHY 0.280 14 1.44e-31 2.91e-30 ✓ sig.
Neuropathy, ataxia, and retinitis pigmentosa Postaxial polydactyly 0.423 11 3.43e-31 6.89e-30 ✓ sig.
Leber hereditary optic neuropathy Neuropathy, ataxia, and retinitis pigmentosa 0.367 11 3.31e-30 6.50e-29 ✓ sig.
Cleft palate and bilateral cleft lip Leber hereditary optic neuropathy 0.355 11 1.54e-29 2.99e-28 ✓ sig.
Melas syndrome Neuropathy, ataxia, and retinitis pigmentosa 0.435 10 1.21e-28 2.30e-27 ✓ sig.
Neuropathy, ataxia, and retinitis pigmentosa ROD-CONE DYSTROPHY 0.282 11 1.52e-28 2.89e-27 ✓ sig.
Cleft palate and bilateral cleft lip Melas syndrome 0.417 10 4.23e-28 7.96e-27 ✓ sig.
Cleft palate and bilateral cleft lip ROD-CONE DYSTROPHY 0.275 11 7.09e-28 1.32e-26 ✓ sig.
Postaxial polydactyly ROD-CONE DYSTROPHY 0.250 12 4.21e-27 7.71e-26 ✓ sig.
Cerebellar ataxia Spastic ataxia 0.116 20 1.63e-26 2.94e-25 ✓ sig.
Leber hereditary optic neuropathy Postaxial polydactyly 0.275 11 5.68e-26 9.94e-25 ✓ sig.
Cerebellar ataxia Neuropathy, ataxia, and retinitis pigmentosa 0.098 12 3.82e-25 6.56e-24 ✓ sig.
Melas syndrome Postaxial polydactyly 0.303 10 4.81e-25 8.24e-24 ✓ sig.
Melas syndrome ROD-CONE DYSTROPHY 0.217 10 1.06e-22 1.69e-21 ✓ sig.
Cerebellar ataxia Cleft palate and bilateral cleft lip 0.088 11 1.48e-21 2.28e-20 ✓ sig.
Cerebellar ataxia Postaxial polydactyly 0.090 12 3.72e-20 5.48e-19 ✓ sig.
Spastic ataxia Spinocerebellar ataxia 0.073 12 3.80e-14 4.40e-13 ✓ sig.
Melas syndrome Mitochondrial encephalomyopathy with lactic acidosis and stroke-like episodes syndrome 0.200 4 1.62e-12 1.71e-11 ✓ sig.
Neuropathy, ataxia, and retinitis pigmentosa Optic neuropathy 0.182 4 1.47e-10 1.36e-9 ✓ sig.
Cleft palate and bilateral cleft lip Optic neuropathy 0.174 4 2.06e-10 1.88e-9 ✓ sig.
Melas syndrome Optic neuropathy 0.143 4 7.96e-10 6.93e-9 ✓ sig.
Mitochondrial encephalomyopathy with lactic acidosis and stroke-like episodes syndrome Neuropathy, ataxia, and retinitis pigmentosa 0.200 3 1.85e-9 1.56e-8 ✓ sig.
Cleft palate and bilateral cleft lip Mitochondrial encephalomyopathy with lactic acidosis and stroke-like episodes syndrome 0.188 3 2.35e-9 1.97e-8 ✓ sig.
Melas syndrome Myoclonic epilepsy with ragged red fibers 0.143 3 6.26e-9 5.09e-8 ✓ sig.
Congenital cardiomyopathy Mitochondrial encephalomyopathy with lactic acidosis and stroke-like episodes syndrome 0.400 2 5.00e-8 3.63e-7 ✓ sig.
Congenital cardiomyopathy Neuropathy, ataxia, and retinitis pigmentosa 0.143 2 6.50e-7 4.06e-6 ✓ sig.
Cleft palate and bilateral cleft lip Congenital cardiomyopathy 0.133 2 7.59e-7 4.67e-6 ✓ sig.
Congenital cardiomyopathy Melas syndrome 0.100 2 1.43e-6 8.51e-6 ✓ sig.
Mitochondrial encephalomyopathy with lactic acidosis and stroke-like episodes syndrome Optic neuropathy 0.133 2 3.30e-6 1.88e-5 ✓ sig.
Congenital cardiomyopathy Myoclonic epilepsy with ragged red fibers 0.167 1 5.16e-4 9.13e-4 ✓ sig.
Neurodevelopmental disorder with microcephaly and brain abnormalities Optic neuropathy 0.077 1 7.75e-4 1.25e-3 ✓ sig.
Optic neuropathy Periodic paralysis with later-onset distal motor neuropathy 0.077 1 7.75e-4 1.25e-3 ✓ sig.
Leber optic atrophy and dystonia Neuropathy, ataxia, and retinitis pigmentosa 0.071 1 8.39e-4 1.34e-3 ✓ sig.
Neuropathy, ataxia, and retinitis pigmentosa Periodic paralysis with later-onset distal motor neuropathy 0.071 1 8.39e-4 1.34e-3 ✓ sig.
Cleft palate and bilateral cleft lip Leber optic atrophy and dystonia 0.067 1 9.04e-4 1.41e-3 ✓ sig.
Cleft palate and bilateral cleft lip Periodic paralysis with later-onset distal motor neuropathy 0.067 1 9.04e-4 1.41e-3 ✓ sig.
Leber optic atrophy and dystonia Melas syndrome 0.050 1 1.23e-3 1.81e-3 ✓ sig.
Melas syndrome Periodic paralysis with later-onset distal motor neuropathy 0.050 1 1.23e-3 1.81e-3 ✓ sig.
Leber optic atrophy and dystonia Postaxial polydactyly 0.042 1 1.49e-3 2.12e-3 ✓ sig.
Leber hereditary optic neuropathy Leber optic atrophy and dystonia 0.036 1 1.74e-3 2.42e-3 ✓ sig.
Neurodevelopmental disorder with motor abnormalities, seizures, and facial dysmorphism Spastic ataxia 0.014 1 4.52e-3 5.48e-3 ✓ sig.
Spinocerebellar ataxia Spinocerebellar ataxia, autosomal recessive 28 0.009 1 6.78e-3 7.88e-3 ✓ sig.
Spinocerebellar ataxia Spinocerebellar ataxia, autosomal recessive 30 0.009 1 6.78e-3 7.88e-3 ✓ sig.
Spinocerebellar ataxia Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 3 0.009 1 6.78e-3 7.88e-3 ✓ sig.
Spinocerebellar ataxia Spinocerebellar ataxia, autosomal recessive, 11 0.009 1 6.78e-3 7.88e-3 ✓ sig.
Spinocerebellar ataxia Spinocerebellar ataxia, autosomal recessive, 22 0.009 1 6.78e-3 7.88e-3 ✓ sig.
Autosomal recessive spinocerebellar ataxia 16 Spinocerebellar ataxia 0.009 1 6.78e-3 7.88e-3 ✓ sig.
Spinocerebellar ataxia Spinocerebellar ataxia, autosomal recessive 27 0.009 1 6.78e-3 7.88e-3 ✓ sig.
Spinocerebellar ataxia Spinocerebellar ataxia type 13 0.009 1 6.78e-3 7.88e-3 ✓ sig.
Spinocerebellar ataxia Spinocerebellar ataxia and intellectual disability 0.009 1 6.78e-3 7.88e-3 ✓ sig.
Neurodevelopmental disorder with motor abnormalities, seizures, and facial dysmorphism Spinocerebellar ataxia 0.009 1 6.78e-3 7.88e-3 ✓ sig.
Cerebellar ataxia Spinocerebellar ataxia, autosomal recessive 28 0.008 1 7.81e-3 8.93e-3 ✓ sig.
Cerebellar ataxia Spinocerebellar ataxia, autosomal recessive 30 0.008 1 7.81e-3 8.93e-3 ✓ sig.
Cerebellar ataxia Spinocerebellar ataxia, autosomal recessive, 11 0.008 1 7.81e-3 8.93e-3 ✓ sig.
Cayman type cerebellar ataxia Cerebellar ataxia 0.008 1 7.81e-3 8.93e-3 ✓ sig.
Autosomal recessive spinocerebellar ataxia 16 Cerebellar ataxia 0.008 1 7.81e-3 8.93e-3 ✓ sig.